Understanding the complexities of autosomal DNA can be very challenging for newbies.
However, there are a few basic tenets that I believe can help these newbies. These tenets are essentially tools that newbies can use to analyze an autosomal DNA problem for themselves.
For example, here are the two very basic tenets that I typically introduce in my autosomal DNA lectures especially for the newbies:
- You only have to go back about 5 generations to start losing ancestors from your Genetic Family Tree.
So many of the issues that newbies run into can be resolved or prevented through understanding of these concepts.
The Coop Lab
The lab of Graham Coop, an associate professor in the Department of Evolution and Ecology at UC Davis, maintains a blog where they often discuss genetics. Today they published an interesting blog post entitled “How much of your genome do you inherit from a particular ancestor? In the post, they perform a handful of different analyses using data they had for one generation of transmissions which was compounded over multiple generations.
23andMe and Udacity today announced a new online course entitled “Tales from the Genome: Adventures in DNA, Identity, and Health,” a Massive Open Online Course (“MOOC”) directed at genetics. According to the website, students will learn about “fundamental principles of inheritance, gene expression, mutation and variation, development of simple and complex biological traits, human ancestry and evolution, and the acquisition of personal genetic information.” The class is labeled as being aimed at beginners.
Although not announced on the Udacity website, the course will be available beginning on September 30, 2013.
The “Tales from the Genome” class will be taught by Matthew Cook, Lauren Castellano, Joanna Mountain (of 23andMe), and Uta Francke (also of 23andMe). For more information, see the press release at Market Watch (“23andMe and Udacity Launch Introductory Human Genetics Course“).
At Salon, an article entitled “The college class that could reveal your real father” by Katya Cengel discusses a course at Stanford called “Genetics 210.” The class uses [entirely optional] 23andme testing to explore the many issues associated with genetic testing. Although the class is offered to both graduate and undergraduate students, the class is filled with mostly graduate students.
All students go through the informed consent process carefully, and have access to a genetic counselor and a psychiatrist (although according to the report not a single student has contacted the psychiatrist in the four semesters the course has been offered, and only two have contacted the genetic counselor).
The most interesting aspect of the article, to me, was the complication that identical twins pose to genetic testing. Epigenetic differences aside (which are currently NOT tested), a genetic test for one will directly apply to the other. So what happens when one twin wants to know and the other doesn’t?
I’ve received a number of emails and comments (see, e.g., here) complaining about Ancestry.com’s new test, AncestryDNA. Specifically, several test-takers believe that the Genetic Ethnicity Prediction provided by Ancestry.com does not reflect the numbers that they expected based on their own research.
“I just got my DNA test results back from Ancestry.com and I am concerned. I was born in England and I have gone back many generations and have found that all my ancestors as far back as the 1600′s in most cases are English. According to the results I have no British Isles DNA. It states that I have 60% Central Europe, 30% Scandinavian and 7% Southern Europe. I also have 3% unknown. How can this be?”
“Just received my results: 21% Southern European and 79% Central European which doesn’t follow years of work on my family history.”
As I’ve stated many, many times in the past, the future of genetic genealogy is combining test results with both family trees and paper records.
Today, MyHeritage and Family Tree DNA announced a partnership that will bring that future one step closer to reality. MyHeritage will offer a full line of tests (13 in total) through FTDNA, including these basic introductory tests (with discounts – not shown below – for MyHeritage subscribers):
- Y-DNA12 (12 Y-STR markers) – $99
- mtDNA (HVR1 region) – $99
- Family Finder (autosomal test) – $298
The FAQ page for the tests is here (and I note that although they currently do not allow import of test results from other providers, they plan to in the future). I wonder if existing FTDNA test-takers can import their results?
Given MyHeritage’s worldwide reach and enormous membership (62 million members around the world!), it will be interesting to see whether this new partnership expands genetic genealogy testing in other parts of the world, which have been slow to try this technology.
Last week I wrote about the results of my Family Finder autosomal DNA test by Family Tree DNA (see “A Review of Family Tree DNA’s Family Finder – Part I“). The Family Finder test uses a whole-genome SNP scan to find stretches of DNA shared by two individuals, thus identifying your genetic cousins (and will soon include the Population Finder analysis of admixture percentages). I currently have over 33 genetic cousins in Family Finder, and I’m working with them to identify our common ancestor(s).
The Affymetrix microarray chip used by FTDNA includes over 500,000 pairs of SNPs located on the X chromosome and the autosomes (no Y chromosome SNPs). Via SNPedia:
FamilyTreeDNA uses an Affymetrix Axiom CEU microarray chip with 3,269 SNPs removed (563,800 SNPs reported) for autosomal and X (but not Y or mitochondrial) ancestry testing for $289. Other sources have cited 548011 snps. This platform tests 1871 of the 12442 snps in SNPedia.
Today at noon, the American Society of Human Genetics lifted an embargo on “Inferring Genetic Ancestry: Opportunities, Challenges, and Implications (pdf),” which will be published in the May 14th issue of the American Journal of Human Genetics.
This paper is a follow-up to a 2008 paper called the “ASHG Ancestry Testing Statement and Recommendations” in which a committee from the ASHG addressed concerns about the claims made by genetic ancestry testing companies. I wrote an article here on the blog at the time – The ASHG Ancestry Testing Statement and Recommendations – that highlighted a number of concerns I had about the statement and the recommendations.
When I wrote the November 13, 2008 blog post, I began by pointing out my personal positions, which have largely remained unchanged in the intervening 1.5 years:
Randy Seaver at Genea-Musings (â€œI’m Puzzled by DNA Claims on â€˜Faces of Americaâ€™â€) writes about the fourth and last episode of â€œFaces of America,â€ a PBS documentary series investigating the ancestry of several famous people in America. This fourth episode included several different types of genetic genealogy to examine the ancestral origins and relatedness of the showâ€™s members.
1. Whole Genome Sequencing by Knome
The first type of genetic genealogy was whole-genome sequencing by Knome of Henry Louis Gates and his father. This analysis examined Henryâ€™s (â€œSkipâ€™sâ€) genome for medical conditions and physical traits, and also compared his DNA to his fatherâ€™s, thereby allowing them to deduce the entire DNA contribution from his deceased mother. This segment was actually quite moving, as Dr. Gates was able to establish this intimate connection to the mother that he and his father obviously missed very much.
Familybuilder, launched in 2007, is a genealogy company that ranks among the top 10 online genealogy services in the world with over 17 million users and over 120 million family tree profiles.Â Late last year the company began offering a genetic genealogy product, as I wrote about here on the blog (see â€œFamilybuilder Announces DNA Testingâ€).
Disclosure: This is a review of Familybuilderâ€™s Y-DNA service using a kit I received free of charge for purposes of this review.Â Please note that this is not meant to be an endorsement but merely a review of the Y-DNA service offered by Familybuilder.
The results of a Familybuilder Y-DNA test includes:
â€œThe Migration Map for you and your ancestors, your 17 Markers, your Haplogroup and the History of your DNA.Â In addition, the ability to share your results with family and friends on social networks such as Facebook and MySpace as well as a downloadable PDF (suitable for framing).â€